ALSG
MCID: APL002
MIFTS: 57

Aplasia of Lacrimal and Salivary Glands (ALSG)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Aplasia of Lacrimal and Salivary Glands

MalaCards integrated aliases for Aplasia of Lacrimal and Salivary Glands:

Name: Aplasia of Lacrimal and Salivary Glands 56 12 58 73 36 13 43 15 39
Alsg 56 12 58 73
Xerostomia 43 17 71
Congenital Absence of Lacrimal Puncta and Salivary Glands 12 58
Parotid Aplasia or Hypoplasia 73
Absence of Salivary Glands 73

Characteristics:

Orphanet epidemiological data:

58
aplasia of lacrimal and salivary glands
Inheritance: Autosomal dominant;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
aplasia of lacrimal and salivary glands:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0111549
OMIM 56 180920
KEGG 36 H00677
ICD9CM 34 750.21
SNOMED-CT 67 715656004
ICD10 via Orphanet 33 Q10.4 Q38.4
UMLS via Orphanet 72 C0158667
Orphanet 58 ORPHA86815
UMLS 71 C0043352 C0158667

Summaries for Aplasia of Lacrimal and Salivary Glands

OMIM : 56 Autosomal dominant aplasia of lacrimal and salivary glands is a rare condition characterized by irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections. ALSG has variable expressivity, and affected individuals may have aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands and absence of the lacrimal puncta. In affected individuals, the misdiagnosis is often made of the more prevalent disorder Sjogren syndrome (270150), an autoimmune condition characterized by keratoconjunctivitis sicca and xerostomia. Both sporadic and familial cases of ALSG have been described (summary by Entesarian et al., 2005). (180920)

MalaCards based summary : Aplasia of Lacrimal and Salivary Glands, also known as alsg, is related to sjogren syndrome and xerophthalmia, and has symptoms including snoring, halitosis and signs and symptoms. An important gene associated with Aplasia of Lacrimal and Salivary Glands is FGF10 (Fibroblast Growth Factor 10), and among its related pathways/superpathways are MAPK signaling pathway and Signaling by GPCR. The drugs Pilocarpine and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include salivary gland, eye and bone marrow, and related phenotypes are carious teeth and xerostomia

Disease Ontology : 12 A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has material basis in heterozygous mutation in FGF10 on chromosome 5p12.

KEGG : 36 Aplasia of lacrimal and salivary glands (ALSG) is a rare autosomal dominant condition characterized by insufficient development of the lacrimal and salivary systems. Patients with ALSG suffer from irritable eyes and dryness of the mouth. Mutations in FGF10 were recently described in ALSG.

UniProtKB/Swiss-Prot : 73 Aplasia of lacrimal and salivary glands: A rare condition characterized by dry conjunctival mucosae, irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections. ALSG has variable expressivity, and affected individuals may have aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands and absence of the lacrimal puncta.

Related Diseases for Aplasia of Lacrimal and Salivary Glands

Diseases related to Aplasia of Lacrimal and Salivary Glands via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 187)
# Related Disease Score Top Affiliating Genes
1 sjogren syndrome 32.9 SPTAN1 HSPG2 CHRM3 AQP5
2 xerophthalmia 30.7 SPTAN1 HSPG2 AQP5
3 sialadenitis 30.7 SPTAN1 HSPG2 AQP5
4 dacryoadenitis 30.4 SPTAN1 HSPG2 AQP5
5 keratoconjunctivitis sicca 30.4 SPTAN1 HSPG2 AQP5
6 lacrimoauriculodentodigital syndrome 28.4 FGFR3 FGFR2 FGF7 FGF3 FGF17 FGF10
7 burning mouth syndrome 11.5
8 glossodynia 11.5
9 helix syndrome 11.5
10 diabetes mellitus, type i 11.2
11 hairy tongue 11.2
12 nasopharyngeal carcinoma 10.6
13 dysphagia 10.6
14 autoimmune disease 10.5
15 mucositis 10.4
16 candidiasis 10.4
17 oropharynx cancer 10.4
18 graft-versus-host disease 10.3
19 oral candidiasis 10.3
20 diabetes mellitus 10.3
21 salivary gland disease 10.3
22 periodontitis 10.3
23 thyroid carcinoma 10.3
24 lichen planus 10.2
25 stomatitis 10.2
26 chronic graft versus host disease 10.2
27 squamous cell carcinoma 10.2
28 gingivitis 10.2
29 connective tissue disease 10.2
30 oral cancer 10.2
31 oral lichen planus 10.2
32 cheilitis 10.1
33 rhinitis 10.1
34 leukemia, acute myeloid 10.1
35 myeloid leukemia 10.1
36 keratoconjunctivitis 10.1
37 chronic dacryocystitis 10.1
38 dacryocystitis 10.1
39 dental caries 10.1
40 rheumatoid arthritis 10.1
41 angular cheilitis 10.1
42 glossitis 10.1
43 hypothyroidism 10.1
44 sleep disorder 10.1
45 fibromyalgia 10.1
46 differentiated thyroid carcinoma 10.1
47 lacrimal apparatus disease 10.1 SPTAN1 HSPG2 AQP5
48 autoimmune disease of exocrine system 10.1 SPTAN1 HSPG2 AQP5
49 cholinergic urticaria 10.1 HRH1 CHRM3
50 down syndrome 10.0

Graphical network of the top 20 diseases related to Aplasia of Lacrimal and Salivary Glands:



Diseases related to Aplasia of Lacrimal and Salivary Glands

Symptoms & Phenotypes for Aplasia of Lacrimal and Salivary Glands

Human phenotypes related to Aplasia of Lacrimal and Salivary Glands:

31
# Description HPO Frequency HPO Source Accession
1 carious teeth 31 HP:0000670
2 xerostomia 31 HP:0000217
3 absent lacrimal punctum 31 HP:0001092
4 lacrimal gland hypoplasia 31 HP:0007732
5 lacrimal gland aplasia 31 HP:0007656

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
xerostomia
salivary gland aplasia/hypoplasia
absent parotid papillae

Head And Neck Eyes:
dry conjunctival mucosae
lacrimal gland aplasia/hypoplasia
absent lacrimal gland puncta

Respiratory Lung:
reduced forced expiratory volume in 1 second (fev1)
reduced fev1/inspiratory vital capacity (ivc) ratio

Head And Neck Teeth:
dental caries

Respiratory Airways:
nonreversible airway obstruction

Clinical features from OMIM:

180920

UMLS symptoms related to Aplasia of Lacrimal and Salivary Glands:


snoring, halitosis, signs and symptoms, signs and symptoms, digestive, symptoms, dry throat

MGI Mouse Phenotypes related to Aplasia of Lacrimal and Salivary Glands:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 AQP5 CHRM3 FGF10 FGF17 FGF3 FGF7
2 growth/size/body region MP:0005378 10.07 AQP5 CHRM3 FGF10 FGF3 FGF7 FGFR2
3 nervous system MP:0003631 9.91 CHRM3 FGF10 FGF17 FGF3 FGF7 FGFR2
4 digestive/alimentary MP:0005381 9.88 AQP5 CHRM3 FGF10 FGFR2 FGFR3 HSPG2
5 hearing/vestibular/ear MP:0005377 9.8 AQP5 FGF10 FGF3 FGFR2 FGFR3 HSPG2
6 renal/urinary system MP:0005367 9.63 CHRM3 FGF10 FGF7 FGFR2 FGFR3 HRH1
7 respiratory system MP:0005388 9.5 AQP5 CHRM3 FGF10 FGFR2 FGFR3 HSPG2
8 vision/eye MP:0005391 9.23 AQP5 CHRM3 FGF10 FGF7 FGFR2 FGFR3

Drugs & Therapeutics for Aplasia of Lacrimal and Salivary Glands

Drugs for Aplasia of Lacrimal and Salivary Glands (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 206)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pilocarpine Approved, Investigational Phase 4 54-71-7, 92-13-7 5910
2
Sodium citrate Approved, Investigational Phase 4 68-04-2
3
Allantoin Approved Phase 4 97-59-6 204
4
Cevimeline Approved Phase 4 107233-08-9 83898 25137844
5
Cefpirome Approved Phase 4 84957-29-9 5479539
6
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
7
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
8
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
9
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
10
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
11
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
12
Cetuximab Approved Phase 4 205923-56-4 56842117 2333
13
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
14
Betaine Approved, Nutraceutical Phase 4 107-43-7 247
15
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
16
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
17 Cholinergic Agents Phase 4
18 Muscarinic Agonists Phase 4
19 Neurotransmitter Agents Phase 4
20 Pharmaceutical Solutions Phase 4
21 Antioxidants Phase 4
22 Gastrointestinal Agents Phase 4
23 Protective Agents Phase 4
24 Citrate Phase 4
25 Chelating Agents Phase 4
26 Antiprotozoal Agents Phase 4
27 Antiparasitic Agents Phase 4
28 Parasympatholytics Phase 4
29 Solifenacin succinate Phase 4 242478-38-2
30 Muscarinic Antagonists Phase 4
31 Cholinergic Antagonists Phase 4
32 Anesthetics Phase 4
33 Antiemetics Phase 4
34 Respiratory System Agents Phase 4
35 Norgestimate, ethinyl estradiol drug combination Phase 4
36 Dopamine Antagonists Phase 4
37 Anti-Arrhythmia Agents Phase 4
38 Anti-Asthmatic Agents Phase 4
39 Bronchodilator Agents Phase 4
40 Mydriatics Phase 4
41 Dopamine Agents Phase 4
42 Vitamins Phase 4
43
Procyanidin Phase 4 4852-22-6 147299
44 Anthocyanidin Phase 4
45 Proanthocyanidin Phase 4
46 Anti-Bacterial Agents Phase 4
47 Antibiotics, Antitubercular Phase 4
48 Alkylating Agents Phase 4
49 Mitomycins Phase 4
50
Chlorhexidine Approved, Vet_approved Phase 2, Phase 3 55-56-1 9552079 2713

Interventional clinical trials:

(show top 50) (show all 278)
# Name Status NCT ID Phase Drugs
1 Effect of Pilocarpine in Patients With Xerostomia Unknown status NCT02982577 Phase 4 Pilocarpine
2 Clinical Evaluation of a Salivary Substitute and a Mucoprotective Product on Xerostomia in Head-and-neck Cancer Patients Completed NCT01316393 Phase 4
3 Phase 4 Study Evaluating Efficacy, Safety and Acceptability of Treatment With a New Salivary Equivalent Compared to Two Moisturizing Mouth Sprays on the Improvement of Dry Mouth Symptoms and Oral Comfort in Patients With Xerostomia. Completed NCT02049112 Phase 4
4 Quality of Life in a Portuguese Population With Primary Sjögren Syndrome Completed NCT03578900 Phase 4 Xeros;Citric Acid based Mouthwash
5 An Investigator-Initiated,Multicenter,Randomized,Double-Blind Placebo-Controlled Design Study to Assess the Effectiveness of CeviMeline to Improve OraL Health in Patients With XErostomia Secondary to Radiation Therapy for Treatment of Head and Neck Squamous Cell Carcinoma Completed NCT00466388 Phase 4 Cevimeline
6 PMS Clinical Study of Korean Red Ginseng Powder on Dry Mouth and Salivary Flow Rates in Xerostomatic Populations Completed NCT00911768 Phase 4
7 Safety and Performance Evaluation of an Electro-stimulator Mounted on an Intra-oral Removable Appliance (Saliwell GenNarino) for the Treatment of Xerostomia Completed NCT00509808 Phase 4
8 A Pilot Randomised Comparison of Bicarbonate Based Mouth Care Versus Biotene Based Mouth Care During Radiotherapy Completed NCT00138827 Phase 4 Biotene (mouth care)
9 Xerostomy Treatment in Patients With Sjogren's Syndrome in Chile :A Double Blind Control Trial Comparing Orally Pilocarpine Drops and Artificial Saliva Completed NCT00438048 Phase 4 Artificial Saliva
10 VECTOR: A Randomized Double-blind Study to Assess the Safety and Efficacy of Solifenacin (Vesicare®) in Comparison to Oxybutynin for Overactive Bladder Patients Completed NCT00431041 Phase 4 solifenacin;oxybutynin immediate release
11 Plasma and Abscess Fluid Pharmacokinetics of Cefpirome and Moxifloxacin After Single and Multiple Dose Administration Completed NCT00280514 Phase 4 cefpirome and moxifloxacin administration
12 Intrathecal Atropine Versus Intravenous Metoclopramide for Prevention of Nausea and Vomiting During Caesarian Section Under Spinal Anesthesia Completed NCT03932578 Phase 4 Atropine sulfate;Metoclopramide
13 Prospective Double-Blind Randomized Controlled Clinical Trial in the Gingivitis Prevention With an Oligomeric Proanthocyanidins Nutritional Supplement Completed NCT02515929 Phase 4
14 Randomized Phase IV Trial to Compare Cetuximab With Concomitant Radiation Therapy With Concomitant Mitomycin-C and 5-Fluorouracil With Radiation Therapy for Locally Advanced Squamous Cell Carcinomas of the Head and Neck Terminated NCT02015650 Phase 4 Cetuximab;Mitomycin-C/ 5-Fluorouracil
15 Use of Biotene Moisturizing Mouth Spray for Xerostomia Associated With Oral Oxybutynin Use Withdrawn NCT02522936 Phase 4 Biotene oral spray
16 Difference in Salivary Flow in Patients With Salivary Gland Hypofunction of the Following Application of Neuro-electrostimulation Unknown status NCT01174329 Phase 2, Phase 3
17 A Multicentre Randomised Study Of Parotid Sparing Intensity Modulated Radiotherapy Versus Conventional Radiotherapy In Patients With Head And Neck Cancer Unknown status NCT00081029 Phase 3
18 A Phase III Randomized Trial Comparing Oral Pilocarpine (Salagen) Versus Submandibular Salivary Gland Transfer Protocol, For the Prevention of Radiation (XRT) Induced Xerostomia in Head and Neck Cancer Patients Completed NCT00168181 Phase 3 Salagen
19 A Randomized Phase III Study Comparing Intravenous Versus Subcutaneous Administration of Amifostine in Prevention of Xerostomia for Patients Receiving Radiotherapy for Head and Neck Carcinomas Completed NCT00158691 Phase 3 Ethyol
20 Effectiveness of Malic Acid 1% in Patients With Xerostomia Induced by Drugs. Determination of Salivary Mucins and Buffering Capacity Completed NCT01652001 Phase 2, Phase 3 Malic Acid
21 A Phase II/III Study Comparing Acupuncture-like Transcutaneous Electrical Nerve Stimulation (ALTENS) Versus Pilocarpine in Treating Early Radiation-Induced Xerostomia Completed NCT00656513 Phase 2, Phase 3 Pilocarpine
22 Phase III Trial of Intensity-modulated Radiotherapy Plus Cisplatin Versus Conventional Radiotherapy Plus Cisplatin in Patients With Stage III-IV Head and Neck Squamous Cell Carcinoma Completed NCT00158678 Phase 3 concomitant cisplatin
23 A Phase III Study to Test the Efficacy of the Prophylactic Use of Oral Pilocarpine to Reduce Hyposalivation and Mucositis Associated With Curative Radiation Therapy in Head and Neck Cancer Patients Completed NCT00003139 Phase 3 pilocarpine hydrochloride
24 Long-term Evaluation of the Effectiveness Of a Novel Intra-oral Electro-stimulator for the Treatment of raDiotherapy-ASsociated Dry Mouth Completed NCT02941276 Phase 3
25 Phase 3, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Weekly Doses of Palifermin (rHuKGF) for the Reduction of Oral Mucositis in Subjects With Advanced Head and Neck Cancer Receiving Radiotherapy With Concurrent Chemotherapy (RT/CT) Completed NCT00101582 Phase 3 Placebo;palifermin;cisplatin chemotherapy
26 Phase 3, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Weekly Doses of Palifermin (rHuKGF) for the Reduction of Oral Mucositis in Subjects With Advanced Head and Neck Cancer Receiving Adjuvant Radiotherapy and Chemotherapy(RT/CT) Completed NCT00131638 Phase 3 Placebo;Palifermin
27 A Randomised Phase III Trial of Radiotherapy With Humidification in Head And Neck Cancer Completed NCT01917942 Phase 3
28 Randomized Double-blid Clinical Trial Comparing the Topical Treatment With Clobetasol and Dexamethasone for Oral Lesions of Chronic Graft-versus-host Disease in Allogeneic Hematopoietic Stem Cell Transplant Recipients Completed NCT01699412 Phase 3 Clobetasol;Dexamethasone
29 A Phase III, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of Cevimeline in the Treatment of Xerostomia Secondary to Radiation Therapy for Cancer in the Head and Neck Region Completed NCT00017511 Phase 3 cevimeline hydrochloride
30 Efficacy and Safety of Intraoral Local Anesthesia by Lidocaine + Clonidine in Patients With Diabetes Mellitus Type 2 Completed NCT02371759 Phase 3 L+C maxillary anesthesia;L+C mandibular anesthesia;L+E maxillary anesthesia;L+E mandibular anesthesia
31 Acupuncture for Pain and Dysfunction Following Neck Dissection: A Randomized, Controlled, Phase III Trial Completed NCT00090337 Phase 3
32 Antimicrobial Efficacy of Xylitol, Probiotic and Chlorhexidine Mouth Rinses Among Children and Elderly Population at High Risk for Dental Caries - A Double Blind Randomized Controlled Trial Completed NCT04399161 Phase 2, Phase 3 Chlorhexidine mouthwash;Xylitol;Probiotic
33 Definitive Chemo-Radiotherapy With or Without Up-front Neck Dissection for Regionally Advanced Head and Neck Squamous Cell Carcinoma: A Phase III Multi-center Prospective Randomized Controlled Trial With Two Additional Observational Cohorts Recruiting NCT02918955 Phase 3 Chemotherapy (Cisplatin)
34 Phase III Trial Testing the Benefit of Intensity-modulated Radiotherapy With Weekly Replanifications Versus Intensity Modulated Radiotherapy With Only One Planification in Locally Advanced Oropharynx Carcinoma for Decreasing Xerostomia Active, not recruiting NCT01874587 Phase 3
35 Controlled Trial Of Acupuncture To Prevent Radiation-Induced Xerostomia Active, not recruiting NCT01266044 Phase 3
36 A Phase III Study of Postoperative Radiation Therapy (IMRT) +/- Cetuximab for Locally-Advanced Resected Head and Neck Cancer Active, not recruiting NCT00956007 Phase 3
37 the Effect of Mixture of Natural Products As Salivary Substitute In Comparison To Carboxy Methyl Cellulose In Treatment Of Xerostomia In Patients With Sjogren's Syndrome: Cross Over Randomized Clinical Trial Not yet recruiting NCT04252209 Phase 3
38 Vergleichende, Randomisierte, Kontrollierte Und Doppelblinde In-situ-Studie Zur Wirkung Von Speichelersatzmitteln Auf Schmelz Und Dentin Terminated NCT01165970 Phase 2, Phase 3 Glandosane
39 A Randomized, Phase III, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Palifermin (NSC# 740548; IND # 6370) for the Reduction of Oral Mucositis in Patients With Locally Advanced Head and Neck Cancer Receiving Radiation Therapy With Concurrent Chemotherapy (Followed by Surgery for Selected Patients) Terminated NCT00360971 Phase 3 cisplatin
40 Randomized Phase III Trial on Postoperative Chemoradiation in Combination With Anti EGFR-Antibody Versus Postoperative Chemoradiation in Head and Neck Squamous Cell Carcinomas (HNSCC) With High Risk of Locoregional Recurrence Withdrawn NCT01142414 Phase 3 cisplatin;fluorouracil
41 Phase 2 Study of Hypnosis for Treating Xerostomia Following Radiotherapy in Head & Neck Cancer Patients Unknown status NCT00408759 Phase 2
42 A Multi-institutional, Randomized Parallel Controlled, Phase II Clinical Trial on Comparison of Effectiveness and Safeness of Amifostine Every-other-day Regimen and Everyday Regimen From Monday to Friday Unknown status NCT01762514 Phase 2 Amifostine every-other-day regimen;Amifostine everyday regimen
43 A Phase I Study of Intensity-modulated Radiotherapy in Patients With Squamous Cell Carcinoma of Unknown Primary (SCCUP) of the Head and Neck Unknown status NCT02112344 Phase 1, Phase 2
44 Efficacy and Safety of Mycophenolate Mofetil in subjectswithSjogren's Syndrome Unknown status NCT02691949 Phase 2 Mycophenolate mofetil
45 A Multiinstitutional Trial To Evaluate The Prophylactic Use Of NASA-Developed Light Emitting Diodes For The Prevention Of Oral Mucositis In Bone Marrow Transplant Patients Unknown status NCT00036712 Phase 2
46 Phase II Study of 3-Dimensional Conformal Radiotherapy (3D-CRT) vs Intensity Modulated Radiotherapy (IMRT) for Squamous Cell Carcinoma of the Head and Neck (HNSCC) Unknown status NCT00652613 Phase 2
47 Anti-inflammatory Pulmonal Therapy of CF Patients With Amitriptyline and Placebo - a Randomised, Double-blind, Placebo-controlled, Multicenter, Cohort - Study Unknown status NCT01309178 Phase 2 Amitriptyline;Mannite
48 Hyperbaric Oxygen Treatment of Mandibular Osteoradionecrosis. A Randomized Clinical Study Unknown status NCT00760682 Phase 2
49 Effect of Non-Surgical Periodontal Therapy on Serum Albumin Levels of Patients on Maintenance Hemodialysis Therapy, A Randomized Control Trial Unknown status NCT01641757 Phase 2
50 Comparison Study of BioXtra Spray and Mouth Rinse in Patient With Radiation-induced Xerostomia Completed NCT01195233 Phase 2 bioxtra

Search NIH Clinical Center for Aplasia of Lacrimal and Salivary Glands

Inferred drug relations via UMLS 71 / NDF-RT 50 :


CARBOXYMETHYLCELLULOSE CALCIUM
cevimeline
Dihydroergotamine
Pilocarpine
Pilocarpine Hydrochloride
Pilocarpine Nitrate

Cochrane evidence based reviews: xerostomia

Genetic Tests for Aplasia of Lacrimal and Salivary Glands

Anatomical Context for Aplasia of Lacrimal and Salivary Glands

MalaCards organs/tissues related to Aplasia of Lacrimal and Salivary Glands:

40
Salivary Gland, Eye, Bone Marrow, Bone, Thyroid, Breast, Testes

Publications for Aplasia of Lacrimal and Salivary Glands

Articles related to Aplasia of Lacrimal and Salivary Glands:

(show top 50) (show all 60)
# Title Authors PMID Year
1
FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG). 61 56 6
17213838 2007
2
LADD syndrome is caused by FGF10 mutations. 56 6 61
16630169 2006
3
Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. 61 56 6
15654336 2005
4
Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease. 56
21742743 2011
5
Congenital absence of lacrimal puncta and salivary glands: report of a Brazilian family and review. 56
10982479 2000
6
Agenesis or hypoplasia of major salivary and lacrimal glands. 56
1785650 1991
7
Agenesis or hypoplasia of major salivary and lacrimal glands. 56
2260568 1990
8
Congenital absence of lacrimal puncta and of all major salivary glands: case report and literature review. 56
3595044 1987
9
Familial parotid gland aplasia. 56
3858468 1985
10
Salivary gland imaging and radionuclide dacryocystography in agenesis of salivary glands. 56
6297441 1983
11
Congenital absence of the lacrimal puncta associated with alacrima and aptyalism. 56
7356788 1980
12
[Parotid and submandibular gland aplasia with atresia of the lacrimal canaliculi]. 56
275052 1978
13
Congenital absence of major salivary glands. 56
265713 1977
14
Treatment of mantle cell lymphoma in Asia: a consensus paper from the Asian Lymphoma Study Group. 61
32183871 2020
15
Aplasia of the lacrimal and major salivary glands (ALSG). First case report in spanish population and review of the literature. 61
30697385 2018
16
Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands. 61
26955834 2017
17
Interrogation of a lacrimo-auriculo-dento-digital syndrome protein reveals novel modes of fibroblast growth factor 10 (FGF10) function. 61
27742760 2016
18
Fgf10: a paracrine-signaling molecule in development, disease, and regenerative medicine. 61
24730525 2014
19
Dacryocystorhinostomy precipitating keratoconjunctivitis sicca in aplasia of lacrimal and major salivary glands (ALSG). 61
21659912 2012
20
Validation of advanced paediatric life support formulas for weight calculation in a multiethnic population. 61
23050162 2012
21
Comparative analyses reveal distinct sets of lineage-specific genes within Arabidopsis thaliana. 61
20152032 2010
22
Histamine H1 receptor induces cytosolic calcium increase and aquaporin translocation in human salivary gland cells. 54
19443731 2009
23
Case report: aplasia of the lacrimal and major salivary glands (ALSG). 61
19376597 2009
24
Periodontal conditions of individuals with Sjögren's syndrome. 54
19254127 2009
25
[A case of lymphocytic interstitial pneumonia complicated with primary Sjögren's syndrome followed by chest CT scanning for thirteen years]. 54
19260540 2009
26
Activation of alpha(2)-adrenoceptors in the lateral hypothalamus reduces pilocarpine-induced salivation in rats. 54
19041371 2009
27
An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome. 61
19102732 2008
28
Clinical efficacy of casein derivatives: a systematic review of the literature. 54
18594077 2008
29
The efficacy of cevimeline hydrochloride in the treatment of xerostomia in Sjögren's syndrome in southern Chinese patients: a randomised double-blind, placebo-controlled crossover study. 54
17899308 2008
30
Evaluation of the clinical efficacy of a mouthwash and oral gel containing the antimicrobial proteins lactoperoxidase, lysozyme and lactoferrin in elderly patients with dry mouth--a pilot study. 54
18194332 2008
31
Effect of a muscarinic M3 receptor agonist on gastric motility. 54
17914991 2007
32
Development of Sjogren's syndrome in nonobese diabetic-derived autoimmune-prone C57BL/6.NOD-Aec1Aec2 mice is dependent on complement component-3. 54
17675493 2007
33
Antibodies against alpha-fodrin are associated with sicca syndrome in the general population. 54
17894005 2007
34
Sjögren's syndrome (SjS)-like disease of mice: the importance of B lymphocytes and autoantibodies. 54
17127420 2007
35
[The mechanisms that underlie xerostomia and the translocation of aquaporin]. 54
16755078 2006
36
Role of complement and B lymphocytes in Sjögren's syndrome-like autoimmune exocrinopathy of NOD.B10-H2b mice. 54
16221495 2006
37
FGF signalling in craniofacial development and developmental disorders. 61
16476029 2006
38
Expression of aquaporin-5 in and fluid secretion from immortalized human salivary gland ductal cells by treatment with 5-aza-2'-deoxycytidine: a possibility for improvement of xerostomia in patients with Sjögren's syndrome. 54
15640830 2005
39
Minor gland saliva flow rate and proteins in subjects with hyposalivation due to Sjogren's syndrome and radiation therapy. 54
15740707 2005
40
[Sjören's syndrome with infiltrative lung disease showing upper lung field predominance]. 54
12931669 2003
41
Drug effects on salivary glands: dry mouth. 54
12974516 2003
42
The efficacy of casein phosphoprotein-calcium phosphate complex (DC-CP) [Dentacal] as a mouth moistener in patients with severe xerostomia. 54
15332459 2003
43
A clinical trial of the anticaries efficacy of casein derivatives complexed with calcium phosphate in patients with salivary gland dysfunction. 54
11925535 2002
44
Clinical applications of antimicrobial host proteins lactoperoxidase, lysozyme and lactoferrin in xerostomia: efficacy and safety. 54
11936452 2002
45
[Use of saliva substitutes in patients with xerostomia]. 54
12442709 2002
46
An examination of the theoretical perspectives underlying the ALSG Generic Instructors Course. 61
12098464 2002
47
Effects of glycosylated recombinant human granulocyte colony-stimulating factor after high-dose cytarabine-based induction chemotherapy for adult acute myeloid leukaemia. 61
11516093 2001
48
Patterns of failure with increasing intensification of induction chemotherapy for acute myeloid leukaemia. 61
11380464 2001
49
Abnormal distribution of aquaporin-5 water channel protein in salivary glands from Sjögren's syndrome patients. 54
11232635 2001
50
A phase I/II study of intensive dose escalation of cytarabine in combination with idarubicin and etoposide in induction and consolidation treatment of adult acute myeloid leukemia. Australian Leukaemia Study Group (ALSG). 61
10492073 1999

Variations for Aplasia of Lacrimal and Salivary Glands

ClinVar genetic disease variations for Aplasia of Lacrimal and Salivary Glands:

6 (show all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGF10 NM_004465.2(FGF10):c.577C>T (p.Arg193Ter)SNV Pathogenic 7529 rs104893884 5:44305147-44305147 5:44305045-44305045
2 FGF10 NC_000005.10:g.(44304226_44304232)_(44357318_44357323)deldeletion Pathogenic 7530 5:44304226-44357323
3 FGF10 NM_004465.2(FGF10):c.409A>T (p.Lys137Ter)SNV Pathogenic 7533 rs104893887 5:44310549-44310549 5:44310447-44310447
4 FGF10 NM_004465.2(FGF10):c.240A>C (p.Arg80Ser)SNV Pathogenic 7534 rs104893888 5:44388545-44388545 5:44388443-44388443
5 FGF10 NM_004465.2(FGF10):c.413G>A (p.Gly138Glu)SNV Pathogenic 7535 rs104893889 5:44310545-44310545 5:44310443-44310443
6 FGF10 NM_004465.2(FGF10):c.426C>T (p.Gly142=)SNV Conflicting interpretations of pathogenicity 353724 rs149851674 5:44310532-44310532 5:44310430-44310430
7 FGF10 NM_004465.2(FGF10):c.186C>A (p.Ser62Arg)SNV Uncertain significance 353726 rs886060654 5:44388599-44388599 5:44388497-44388497
8 FGF10 NM_004465.2(FGF10):c.423T>C (p.Tyr141=)SNV Uncertain significance 907812 5:44310535-44310535 5:44310433-44310433
9 FGF10 NM_004465.2(FGF10):c.144G>A (p.Glu48=)SNV Uncertain significance 353727 rs886060655 5:44388641-44388641 5:44388539-44388539
10 FGF10 NM_004465.2(FGF10):c.624A>G (p.Ser208=)SNV Uncertain significance 353721 rs886060653 5:44305100-44305100 5:44304998-44304998
11 FGF10 NM_004465.1(FGF10):c.*5A>TSNV Likely benign 369476 rs111763965 5:44305092-44305092 5:44304990-44304990
12 FGF10 NM_004465.2(FGF10):c.261G>A (p.Lys87=)SNV Benign/Likely benign 353725 rs545941601 5:44388524-44388524 5:44388422-44388422
13 FGF10 NM_004465.2(FGF10):c.97G>A (p.Val33Ile)SNV Benign/Likely benign 193283 rs145373611 5:44388688-44388688 5:44388586-44388586
14 FGF10 NM_004465.2(FGF10):c.620A>C (p.His207Pro)SNV Benign/Likely benign 288912 rs147715509 5:44305104-44305104 5:44305002-44305002
15 FGF10 NM_004465.2(FGF10):c.591C>T (p.Thr197=)SNV Benign 353722 rs17234639 5:44305133-44305133 5:44305031-44305031
16 FGF10 NM_004465.2(FGF10):c.430-15G>CSNV Benign 353723 rs2290070 5:44305309-44305309 5:44305207-44305207
17 FGF10 NM_004465.2(FGF10):c.610A>G (p.Met204Val)SNV Benign 907811 5:44305114-44305114 5:44305012-44305012

Expression for Aplasia of Lacrimal and Salivary Glands

Search GEO for disease gene expression data for Aplasia of Lacrimal and Salivary Glands.

Pathways for Aplasia of Lacrimal and Salivary Glands

Pathways related to Aplasia of Lacrimal and Salivary Glands according to KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010

Pathways related to Aplasia of Lacrimal and Salivary Glands according to GeneCards Suite gene sharing:

(show all 32)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.03 SPTAN1 HSPG2 HRH1 FGFR3 FGFR2 FGF7
2
Show member pathways
13.56 HSPG2 FGFR3 FGFR2 FGF7 FGF3 FGF17
3
Show member pathways
13.38 SPTAN1 FGFR3 FGFR2 FGF7 FGF3 FGF17
4
Show member pathways
13.3 FGFR3 FGFR2 FGF7 FGF3 FGF17 FGF10
5
Show member pathways
13.24 SPTAN1 FGFR3 FGFR2 FGF7 FGF3 FGF17
6
Show member pathways
13.15 FGFR3 FGFR2 FGF7 FGF17 FGF10 AQP5
7
Show member pathways
13.01 FGFR3 FGFR2 FGF7 FGF3 FGF17 FGF10
8
Show member pathways
12.96 HSPG2 FGFR3 FGFR2 FGF7 FGF17 FGF10
9
Show member pathways
12.92 FGFR3 FGFR2 FGF7 FGF17 FGF10
10
Show member pathways
12.88 FGFR3 FGFR2 FGF7 FGF3 FGF17 FGF10
11
Show member pathways
12.74 FGFR3 FGFR2 FGF7 FGF3 FGF17 FGF10
12 12.71 FGFR3 FGFR2 FGF7 FGF3 FGF17 FGF10
13
Show member pathways
12.68 FGFR2 FGF7 FGF3 FGF17 FGF10
14 12.64 FGFR3 FGFR2 FGF7 FGF3 FGF17 FGF10
15
Show member pathways
12.62 FGFR3 FGFR2 FGF7 FGF17 FGF10
16
Show member pathways
12.6 FGFR3 FGFR2 FGF7 FGF3 FGF17 FGF10
17
Show member pathways
12.57 FGFR2 FGF7 FGF3 FGF17 FGF10
18
Show member pathways
12.57 FGFR3 FGFR2 FGF7 FGF3 FGF17 FGF10
19
Show member pathways
12.42 FGFR3 FGFR2 FGF7 FGF3 FGF17 FGF10
20
Show member pathways
12.31 FGFR3 FGFR2 FGF7 FGF17 FGF10
21 12.26 FGFR3 FGFR2 FGF7 FGF3 FGF17 FGF10
22
Show member pathways
12.23 FGFR3 FGFR2 FGF7 FGF3 FGF17 FGF10
23
Show member pathways
12.2 FGFR3 FGFR2 FGF7 FGF3 FGF17 FGF10
24
Show member pathways
12.17 FGFR3 FGFR2 FGF7 FGF17 FGF10
25
Show member pathways
12.05 LPO CHRM3 AQP5
26
Show member pathways
12.02 FGFR3 FGFR2 FGF7 FGF3 FGF17 FGF10
27 11.94 FGF7 FGF3 FGF10
28 11.64 FGFR3 FGFR2 FGF7 FGF17 FGF10
29
Show member pathways
11.63 FGFR3 FGFR2 FGF7 FGF3 FGF17 FGF10
30
Show member pathways
11.58 HSPG2 FGFR3 FGFR2 FGF7 FGF3 FGF17
31 11.34 FGFR3 FGFR2 FGF7 FGF3
32 10.92 HSPG2 FGFR3 FGFR2 FGF7 FGF17 FGF10

GO Terms for Aplasia of Lacrimal and Salivary Glands

Cellular components related to Aplasia of Lacrimal and Salivary Glands according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.28 SPTAN1 LPO HSPG2 FGFR3 FGFR2 FGF7

Biological processes related to Aplasia of Lacrimal and Salivary Glands according to GeneCards Suite gene sharing:

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.85 FGFR3 FGFR2 FGF7 FGF3 FGF17 FGF10
2 animal organ morphogenesis GO:0009887 9.83 HSPG2 FGFR2 FGF10
3 positive regulation of MAPK cascade GO:0043410 9.82 FGFR3 FGFR2 FGF10
4 positive regulation of epithelial cell proliferation GO:0050679 9.75 FGFR2 FGF7 FGF10
5 cell-cell signaling GO:0007267 9.72 FGFR3 FGFR2 FGF3 FGF17 FGF10
6 positive regulation of cell division GO:0051781 9.7 FGFR2 FGF7 FGF3
7 digestive tract development GO:0048565 9.67 FGFR2 FGF10
8 G protein-coupled serotonin receptor signaling pathway GO:0098664 9.67 HRH1 CHRM3
9 embryonic pattern specification GO:0009880 9.66 FGFR2 FGF10
10 protein localization to cell surface GO:0034394 9.66 FGF7 FGF10
11 regulation of smoothened signaling pathway GO:0008589 9.65 FGFR2 FGF10
12 embryonic digestive tract morphogenesis GO:0048557 9.65 FGFR2 FGF10
13 positive regulation of keratinocyte proliferation GO:0010838 9.64 FGF7 FGF10
14 positive regulation of keratinocyte migration GO:0051549 9.63 FGF7 FGF10
15 organ growth GO:0035265 9.63 FGFR2 FGF10
16 positive regulation of protein kinase B signaling GO:0051897 9.63 FGFR3 FGFR2 FGF7 FGF3 FGF17 FGF10
17 limb bud formation GO:0060174 9.62 FGFR2 FGF10
18 positive regulation of phospholipase activity GO:0010518 9.62 FGFR3 FGFR2
19 endochondral bone growth GO:0003416 9.61 FGFR3 FGFR2
20 bud elongation involved in lung branching GO:0060449 9.61 FGFR2 FGF10
21 epidermis morphogenesis GO:0048730 9.6 FGFR2 FGF10
22 lacrimal gland development GO:0032808 9.59 FGFR2 FGF10
23 otic vesicle formation GO:0030916 9.58 FGFR2 FGF10
24 hair follicle morphogenesis GO:0031069 9.58 FGFR2 FGF7 FGF10
25 positive regulation of epithelial cell proliferation involved in lung morphogenesis GO:0060501 9.57 FGFR2 FGF7
26 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.56 FGFR2 FGF10
27 saliva secretion GO:0046541 9.55 CHRM3 AQP5
28 regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling GO:0060665 9.54 FGF7 FGF10
29 secretion by lung epithelial cell involved in lung growth GO:0061033 9.51 FGF7 FGF10
30 MAPK cascade GO:0000165 9.5 SPTAN1 FGFR3 FGFR2 FGF7 FGF3 FGF17
31 mesenchymal cell differentiation involved in lung development GO:0060915 9.49 FGFR2 FGF10
32 branch elongation involved in salivary gland morphogenesis GO:0060667 9.48 FGFR2 FGF10
33 mammary gland bud formation GO:0060615 9.46 FGFR2 FGF10
34 fibroblast growth factor receptor signaling pathway involved in mammary gland specification GO:0060595 9.43 FGFR2 FGF10
35 branching involved in salivary gland morphogenesis GO:0060445 9.43 FGFR2 FGF7 FGF10
36 fibroblast growth factor receptor signaling pathway GO:0008543 9.1 FGFR3 FGFR2 FGF7 FGF3 FGF17 FGF10

Molecular functions related to Aplasia of Lacrimal and Salivary Glands according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.54 FGFR2 FGF7 FGF10
2 growth factor activity GO:0008083 9.46 FGF7 FGF3 FGF17 FGF10
3 G protein-coupled serotonin receptor activity GO:0004993 9.4 HRH1 CHRM3
4 fibroblast growth factor binding GO:0017134 9.32 FGFR3 FGFR2
5 fibroblast growth factor-activated receptor activity GO:0005007 9.26 FGFR3 FGFR2
6 type 2 fibroblast growth factor receptor binding GO:0005111 8.96 FGF17 FGF10
7 fibroblast growth factor receptor binding GO:0005104 8.92 FGF7 FGF3 FGF17 FGF10

Sources for Aplasia of Lacrimal and Salivary Glands

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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